V24M (p.Val24Met) variant of KCNB1 (Q14721)
V24M (p.Val24Met) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 26; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
V24M (p.Val24Met) variant details
- p.Val24Met
- rs778774389
- ClinGen CA9903232
- ClinVar RCV001763949
- ClinVar RCV003132534
- Uncertain significance
- Developmental and epileptic encephalopathy, 26; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.21
- CADD 22.70
- PolyPhen-2 0.22
- SIFT 0.13
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 26; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available